ClinVar Miner

Variants in gene LAMA2

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
608 590 1854 2595 281 60 5361

Condition and significance breakdown #

Total conditions: 56
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LAMA2-related muscular dystrophy 503 289 1024 2343 148 7 4278
not provided 128 62 681 278 147 0 1208
Merosin deficient congenital muscular dystrophy 131 220 118 22 24 8 480
Inborn genetic diseases 10 1 371 39 0 0 421
not specified 0 0 118 151 73 0 304
Congenital muscular dystrophy due to partial LAMA2 deficiency 5 2 194 22 28 0 251
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 40 78 83 6 4 0 210
LAMA2-related disorder 11 3 15 63 5 0 97
Muscular dystrophy, limb-girdle, autosomal recessive 23 26 25 27 2 12 0 90
Intellectual disability 0 0 2 12 0 0 14
Abnormality of the musculature 5 7 0 0 0 0 12
Primary dilated cardiomyopathy 0 1 7 0 0 0 8
Familial cancer of breast 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Congenital Muscular Dystrophy, LAMA2-related 4 0 0 0 0 1 5
Gastric cancer 0 0 0 0 0 5 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Muscular dystrophy 0 0 5 0 0 0 5
Sarcoma 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 4 4
Limb-girdle muscular dystrophy 0 0 2 2 0 0 4
Melanoma 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 3 3
Nonpapillary renal cell carcinoma 0 0 0 0 0 3 3
Ovarian cancer 0 0 0 0 0 3 3
Ovarian serous cystadenocarcinoma 0 0 0 0 0 3 3
See cases 0 1 2 0 0 0 3
Congenital muscular dystrophy 1 1 0 0 0 0 2
Distal myopathy 0 0 2 0 0 0 2
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 1 0 1 0 0 0 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
LAMA2-related muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Pancreatic adenocarcinoma 0 0 0 0 0 2 2
Polymicrogyria 0 0 2 0 0 0 2
Qualitative or quantitative defects of merosin 2 0 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine carcinosarcoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Fetal anomalies with a likely genetic cause 1 0 0 0 0 0 1
Hepatocellular carcinoma 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 1 0 0 0 1
Hypotonia 0 1 0 0 0 0 1
Muscle dystrophy 0 1 0 0 0 0 1
Muscle tissue disorder 0 0 1 0 0 0 1
Muscular dystrophy, congenital, merosin deficient or partially deficient 1 0 0 0 0 0 1
Proximal muscle weakness 0 1 0 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 0 1
Schizophrenia 0 0 1 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Squamous cell lung carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 134
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 494 116 1018 2347 148 0 4123
GeneDx 45 26 192 211 173 0 647
Revvity Omics, Revvity 54 26 403 19 1 0 503
Ambry Genetics 10 1 371 39 0 0 421
Illumina Laboratory Services, Illumina 2 1 194 22 28 0 247
Mayo Clinic Laboratories, Mayo Clinic 13 4 135 45 42 0 239
Baylor Genetics 76 118 20 0 0 0 214
Counsyl 19 74 62 20 0 0 175
Fulgent Genetics, Fulgent Genetics 36 64 65 6 3 0 174
PreventionGenetics, part of Exact Sciences 7 2 15 103 46 0 173
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 16 76 40 8 0 172
Myriad Genetics, Inc. 6 161 3 0 0 0 170
Eurofins Ntd Llc (ga) 46 0 82 3 37 0 168
CeGaT Center for Human Genetics Tuebingen 21 9 39 68 9 0 146
Athena Diagnostics 6 1 50 16 30 0 103
Breakthrough Genomics, Breakthrough Genomics 0 0 11 59 0 0 70
Genetic Services Laboratory, University of Chicago 0 1 25 24 15 0 65
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 44 44
3billion 27 6 10 0 0 0 43
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 2 8 19 0 31
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 21 1 1 0 30
Neuberg Centre For Genomic Medicine, NCGM 4 11 11 0 0 0 26
Clinical Genetics, Academic Medical Center 0 0 0 6 18 0 24
Kariminejad - Najmabadi Pathology & Genetics Center 11 10 2 0 0 0 23
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 3 20 0 0 23
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 5 12 4 0 22
Mendelics 15 3 0 1 3 0 22
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 5 4 3 0 0 20
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 2 3 12 0 18
OMIM 18 0 0 0 0 0 18
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 2 7 2 0 12
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 10 0 0 12
Genome-Nilou Lab 0 0 0 0 12 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 0 6 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 9 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 4 4 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 4 1 3 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 6 1 1 0 0 0 8
New York Genome Center 0 2 6 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 3 0 0 0 7
Institute of Human Genetics, University of Wuerzburg 2 4 1 0 0 0 7
MGZ Medical Genetics Center 3 3 1 0 0 0 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 4 1 0 0 1 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 2 0 0 0 6
Genetics and Genomics Program, Sidra Medicine 0 0 6 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 0 6
Institute of Human Genetics, University of Leipzig Medical Center 4 1 1 0 0 0 6
Dasa 5 0 0 0 0 0 5
GeneReviews 1 0 0 0 0 4 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 0 1 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 1 0 0 5
Breda Genetics srl, Breda Genetics srl 1 2 1 0 0 0 4
Center for Genetic Medicine Research, Children's National Medical Center 0 1 3 0 0 0 4
Dubai Health Genomic Medicine Center, Dubai Health 1 0 2 1 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 3 0 0 0 0 4
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 2 0 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 3
Department of Medical Genetics, National Institute of Health 2 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 3 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 1 1 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 2 1 0 0 0 3
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 3 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 1 0 0 0 2
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 2 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Department of Genetics, Sultan Qaboos University Hospital 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 1 0 0 0 0 2
Dr. Oladnabi Research Group, Golestan University of Medical Sciences 1 1 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 2 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 1 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 1 1 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 1 0 0 0 2
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 2 0 0 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 2
Suma Genomics 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 1 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 1 0 0 0 0 0 1
Department of Psychiatry, The University of Hong Kong 0 0 1 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 1 0 0 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 1
Institute for Molecular Bioscience, The University of Queensland 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 1
KTest Genetics, KTest 0 1 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 0 1 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1

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